Salt-wasting congenital adrenal hyperplasia: A case report

Abstract

Salt-Wasting Congenital Adrenal Hyperplasia (SW-CAH) is a rare genetic disorder characterized by enzyme deficiencies affecting the adrenal steroidogenesis pathway, leading to a decrease in cortisol synthesis. Here presented a case of a 28-day-old male infant presented with symptoms of lethargy and feeding difficulties. Initial evaluations revealed severe electrolyte imbalances, including hyponatremia and hyperkalemia. Further investigations, including hormone tests, confirmed a diagnosis of SW-CAH. The management involved intravenous therapy with steroids, including hydrocortisone and fludrocortisone, to restore hormonal balance. Strict monitoring of sugar levels, blood pressure, serum electrolytes, and cortisol levels was crucial. The case highlights the importance of early diagnosis and intervention, particularly in regions with limited access to healthcare services.

This report underscores the need for increased awareness of CAH, particularly SW-CAH, and the potential benefits of implementing newborn screening programs and establishing effective disease databases to improve early detection and management of this condition, potentially saving lives.